Endometriosis is a prevalent gynecological condition characterized by the presence of endometrial-like tissue outside the uterus, leading to chronic pelvic pain and infertility. This review aims to shed light on the latest advancements in diagnosing and managing endometriosis. It offers insight into the condition's pathogenesis, clinical symptoms, diagnostic techniques, and available treatment approaches. Furthermore, the article emphasizes innovative technologies and novel therapeutic strategies that promise to enhance patient outcomes significantly. This review aspires to empower clinicians to deliver the highest quality care to their patients affected by this challenging condition by consolidating the current understanding of endometriosis.
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| http://dx.doi.org/10.1016/j.prp.2025.155813 | DOI Listing |
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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Machine learning and multi-omics in precision medicine for ME/CFS.
J Transl Med
January 2025
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, 3052, Australia.
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a complex and multifaceted disorder that defies simplistic characterisation. Traditional approaches to diagnosing and treating ME/CFS have often fallen short due to the condition's heterogeneity and the lack of validated biomarkers. The growing field of precision medicine offers a promising approach which focuses on the genetic and molecular underpinnings of individual patients.
View Article and Find Full Text PDFConstruction of a prognostic model for gastric cancer based on immune infiltration and microenvironment, and exploration of MEF2C gene function.
BMC Med Genomics
January 2025
Department of Oncology, The First People's Hospital of Yibin, No.65, Wenxing Street, Cuiping District, Yibin, 644000, China.
Background: Advanced gastric cancer (GC) exhibits a high recurrence rate and a dismal prognosis. Myocyte enhancer factor 2c (MEF2C) was found to contribute to the development of various types of cancer. Therefore, our aim is to develop a prognostic model that predicts the prognosis of GC patients and initially explore the role of MEF2C in immunotherapy for GC.
View Article and Find Full Text PDFReflecting on the impact of the COVID pandemic on patient management and its subsequent influence on long-term outcomes: a case-control study in the field of esophago-gastric cancer.
World J Surg Oncol
January 2025
Department of Oesophago-Gastric & Bariatric Surgery, Salford Care Organisation, Northern Care Alliance NHS Foundation Trust, Salford Royal Hospital, Manchester, UK.
Background: The delivery of cancer services changed significantly during the COVID-19 pandemic. This study aimed to describe changes in presentations, assess the change in recommendations by the MDT during the pandemic, and describe the subsequent long-term impact of these changes on survival rates in patients with EG cancer.
Methods: A retrospective cohort study was designed comparing three patient groups of those referred to EG MDT in the same 6-month period pre-pandemic (PP;2019) during the initial phase of the pandemic (P1;2020) and the year after the initial phase (P2;2021).
Correlation of sarcopenia with progression of liver fibrosis in patients with metabolic dysfunction-associated steatotic liver disease: a study from two cohorts in China and the United States.
Nutr J
January 2025
Department of Urology, Changzhou Third People's Hospital, Changzhou, 213001, China.
Objective: The objective of this study was to investigate the association between sarcopenia and liver fibrosis in patients aged 18-59 years with metabolic dysfunction-associated steatotic liver disease (MASLD) and to assess the potential of sarcopenia as a risk factor for the progression of liver fibrosis.
Methods: The study included 821 patients with MASLD in the US cohort and 3,405 patients with MASLD in the Chinese cohort. Liver controlled attenuation parameters (CAP) and liver stiffness measurements (LSM) were assessed by vibration-controlled transient elastography (VCTE) to evaluate the extent of hepatic steatosis and fibrosis.
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